DDB1 (Damage Specific DNA Binding Protein 1): Gene, Function, and Disease Associations
A comprehensive overview of the DDB1 gene, including its genomic context, protein function, expression patterns, mutations, and clinical significance.
Gene Information Card
| Symbol | DDB1 |
|---|---|
| Full Name | Damage Specific DNA Binding Protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 1642 ncbi.nlm.nih.gov/gene/1642 |
| Ensembl ID | ENSG00000167972 |
| UniProt ID | Q16531 |
| OMIM ID | 600045 |
| HGNC ID | 2717 |
| Aliases | XPE-BF; UV-DDB1; DDBA; XPE; XPCE |
Description
DDB1 encodes the large subunit of the heterodimeric UV-damaged DNA-binding protein (UV-DDB), which is involved in nucleotide excision repair (NER) of UV-induced DNA lesions. The protein also functions as a core component of the CUL4-RING E3 ubiquitin ligase complex, targeting various substrates for ubiquitination and proteasomal degradation, thereby regulating DNA repair, cell cycle, and chromatin remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Xeroderma Pigmentosum Group E (XPE) | Mutations in DDB1 are rare; however, defects in the UV-DDB complex impair global genome NER, leading to increased UV sensitivity and skin cancer predisposition. | OMIM: 600045; ClinVar |
| Hepatocellular Carcinoma | DDB1 overexpression or dysregulation of CUL4-DDB1 E3 ligase activity may promote genomic instability and oncogenesis. | COSMIC; literature |
| Breast Cancer | Altered DDB1 expression has been observed, potentially affecting DNA repair capacity and tumor progression. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.4 | High |
| Thyroid | 18.2 | Medium |
| Adrenal Gland | 15.3 | Medium |
| Liver | 12.1 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.9 | Low |
| Heart | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.3 | Cervical cancer cell line; high expression |
| A549 | 18.7 | Lung carcinoma; moderate expression |
| MCF7 | 22.1 | Breast cancer; high expression |
| HepG2 | 20.4 | Liver cancer; high expression |
| K562 | 12.8 | Leukemia; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1093C>T (p.Arg365Ter) | Nonsense | Rare | Loss of function; may impair DNA repair |
| c.1642A>G (p.Lys548Glu) | Missense | Rare | Potential impact on protein stability or interaction |
| c.2215G>A (p.Asp739Asn) | Missense | Rare | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DDB1 are rare and may lead to defective NER, increasing UV sensitivity and cancer risk.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression is more common in cancers.
Dominant Negative (DN)
Dominant-negative effects are not well documented; however, mutations affecting the UV-DDB complex could interfere with normal function.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • damaged DNA binding |
| • ubiquitin protein ligase activity | • protein binding |
| • nucleotide-excision repair | • response to UV |
| • chromatin remodeling | • cell cycle |
Pathways
• Nucleotide Excision Repair
• CUL4-DDB1 E3 ubiquitin ligase pathway
• DNA damage response
• Ubiquitin-mediated proteolysis
Protein Summary
DDB1 is a 127 kDa protein that forms a heterodimer with DDB2 to recognize UV-induced photoproducts. It also serves as an adaptor for CUL4-RING E3 ligases, facilitating ubiquitination of proteins involved in DNA repair, replication, and transcription. The protein is ubiquitously expressed and essential for cell viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDB1 Knockout HAP1 Cell Line | EDJ-KQ78110 | Human | 1642 | Details Get a Quote |
| DDB1 Knockout HEK293T Cell Line | EDJ-KQ78142 | Human | 1642 | Details Get a Quote |
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